Our results show that a diagnosis of confirmed isolated mild ventriculomegaly was associated with an increased risk of neurodevelopmental disorders compared to the reference population, but the absolute risk was low and there were no cases of intellectual disability or cerebral palsy. This article is protected by copyright. All rights reserved.

The increasing use of de-torsion of the ovaries may result in re-torsion. This review addresses risk of re-torsion and describes preventive strategies to avoid re-torsion in pre-menarcheal girls, and fertile and pregnant women. We clinically reviewed PubMed, Embase, Trip and Cochrane databases. The main outcome measures were re-torsion and viability of ovary with fixation measures. A total of 38 publications including 71 girls, 363 fertile women, and 69 pregnant women were found to be relevant. All studies were case reports or case series, sometimes with non-randomized controls. The studies show considerable heterogeneity in design, population, management and outcome. Only four studies included more than 50 cases. In pregnancy the risk of re-torsion was as high as 19.5-37.5%; among fertile women it was 28.6%. Most articles concluded that fixation of the ovaries to the pelvic sidewall or plication of the ovarian ligament after torsion may prevent re-torsion. In one case a girl experienced re-torsion after ovariopexy. Based on observational studies it seems that de-torsion and fixation of the ovary is a safe procedure that usually ensures maintenance of ovarian function and reduces the risk of recurrence, especially when there are no ovarian cysts or adnexal masses.

Acromelic frontonasal dysostosis (AFND) is a distinctive and rare frontonasal malformation that presents in combination with brain and limb abnormalities. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son. In the latter family we demonstrate parental mosaicism through deep sequencing of DNA isolated from a variety of tissues, which each contain different levels of mutation. This has important implications for genetic counselling.

Objective To compare the recommended three‐view fetal heart screening method to detect major congenital heart disease (CHD) with more elaborate screening strategies to determine the cost‐effective strategy in unselected (low‐risk) pregnancies. Methods A decision‐analytic model was designed to compare four screening strategies to identify fetuses with major CHD in a theoretical cohort of 4 000 000 births in the USA. The four strategies were: (1) three views: four‐chamber view (4CV) and views of the left (LVOT) and right (RVOT) ventricular outflow tracts; (2) five views: 4CV, LVOT, RVOT and longitudinal views of the ductal arch and aortic arch; (3) five axial views: 4CV, LVOT, RVOT, three‐vessel (3V) view and three‐vessels‐and‐trachea view; and (4) six views: 4CV, LVOT, RVOT and 3V views and longitudinal views of the ductal arch and aortic arch. Outcomes related to neonatal mortality and neurodevelopmental disability were evaluated. The analysis was performed from a healthcare‐system perspective, with a cost‐effectiveness willingness‐to‐pay threshold set at $100 000 per quality‐adjusted life year (QALY). Baseline analysis, one‐way sensitivity analysis and Monte‐Carlo simulation were performed. Results In our baseline model, screening with five axial views was the optimal strategy, detecting 3520 more CHDs, and resulting in 259 fewer children with neurodevelopmental disability, 40 fewer neonatal deaths and only slightly higher costs, compared with screening with the currently recommended three views. Screening with six views was more effective, but also cost considerably more, compared with screening with five axial views, and had an incremental cost of $490 023/QALY, which was over the willingness‐to‐pay threshold. The five‐view strategy was dominated by the other three strategies, i.e. it was more costly and less effective in comparison. The data were robust when tested with Monte‐Carlo and one‐way sensitivity analysis. Conclusion Although current guidelines recommend a minimum of three views for detecting CHD during the mid‐trimester anatomy scan, screening with five axial views is a cost‐effective strategy that may lead to improved outcome compared with three‐view screening. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

Objective To perform a cost‐effectiveness analysis of different follow‐up strategies for non‐obese and obese women who had incomplete fetal cardiac screening for major congenital heart disease (CHD). Methods Three decision‐analytic models, one each for non‐obese, obese and Class‐III‐obese women, were developed to compare five follow‐up strategies for initial suboptimal fetal cardiac screening. The five strategies were: (1) no follow‐up ultrasound (US) examination but direct referral to fetal echocardiography (FE); (2) one follow‐up US, then FE if fetal cardiac views were still suboptimal; (3) up to two follow‐up US, then FE if fetal cardiac views were still suboptimal; (4) one follow‐up US and no FE; and (5) up to two follow‐up US and no FE. The models were designed to identify fetuses with major CHD in a theoretical cohort of 4 000 000 births in the USA. Outcomes related to neonatal mortality and neurodevelopmental disability were evaluated. A cost‐effectiveness willingness‐to‐pay threshold was set at US$100 000 per quality‐adjusted life year (QALY). Base‐case and sensitivity analysis and Monte‐Carlo simulation were performed. Results In our base‐case models for all body mass index (BMI) groups, no follow‐up US, but direct referral to FE led to the best outcomes, detecting 7%, 25% and 82% more fetuses with CHD in non‐obese, obese and Class‐III‐obese women, respectively, compared with the baseline strategy of one follow‐up US and no FE. However, no follow‐up US, but direct referral to FE was above the US$100 000/QALY threshold and therefore not cost‐effective. The cost‐effective strategy for all BMI groups was one follow‐up US and no FE. Both up to two follow‐up US with no FE and up to two follow‐up US with FE were dominated (being more costly and less effective), while one follow‐up US with FE was over the cost‐effectiveness threshold. One follow‐up US and no FE was the optimal strategy in 97%, 93% and 86% of trials in Monte‐Carlo simulation for non‐obese, obese and Class‐III‐obese models, respectively. Conclusion For both non‐obese and obese women with incomplete fetal cardiac screening, the optimal CHD follow‐up screening strategy is no further US and immediate referral to FE; however, this strategy is not cost‐effective. Considering costs, one follow‐up US and no FE is the preferred strategy. For both obese and non‐obese women, Monte‐Carlo simulations showed clearly that one follow‐up US and no FE was the optimal strategy. Both non‐obese and obese women with initial incomplete cardiac screening examination should therefore be offered one follow‐up US. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.